Maternal Thyroid Deficiency during Pregnancy and Subsequent Neuropsychological Development of the Child von Haddow, James E, Palomaki, Glenn E, Allan, Walter C, Williams, Josephine R, Knight, George J, Gagnon, June, O'Heir, Cheryl E, Mitchell, Marvin L, Hermos, Rosalie J, Waisbren, Susan E, Faix, James D, Klein, Robert Z

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Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG von Paketci, C., Edem, P., Hiz, S., Sonmezler, E., Soydemir, D., Sarikaya Uzan, G., Oktay, Y., O'Heir, E., Beltran, S., Laurie, S., Töpf, A., Lochmuller, H., Horvath, R., Yis, U.

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O.01 Correlating molecular genetic testing for rare genetic variants with a broad clinicopathologic spectrum of congenital myopathies von Jayaraman, D., Genetti, C., Aykanat, A., Win, W., Valivullah, Z., O'Heir, E., Darras, B., Laine, R., O'Donnell-Luria, A., Beggs, A.

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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.332 Role of whole exome sequencing in identifying rare genetic variants in a cohort of patients presenting with congenital myop... von Aykanat, A., Genetti, C., Win, W., Valivullah, Z., O'Heir, E., Darras, B., Laine, R., O'Donnell-Luria, A., Beggs, A.

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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES von Aykanat, A., Genetti, C., Win, W., Valivullah, Z., O'Heir, E., Darras, B., Laine, R., O'Donnell-Luria, A., Beggs, A.

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NEW GENES AND DISEASES: EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement von Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., Sickmann, A., Kuechler, A., Frank, K., Kölbel, H., Christiansen, J., Schara-Schmidt, U., Roos, A.

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NEW GENES AND DISEASES von Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., Sickmann, A., Kuechler, A., Frank, K., Kölbel, H., Christiansen, J., Schara-Schmidt, U., Roos, A.

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Transient acquired donor peanut allergy presenting as life-threatening anaphylaxis following lung transplantation von Stojanovic, Stephanie, Chatelier, Josh, Bosco, Julian, O'Hehir, Robyn E., Snell, Greg

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Genome Sequencing for Diagnosing Rare Diseases von Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition von Picketts, D, Mirzaa, G, Yan, K, Relator, R, Timpano, S, Yalcin, B, Collins, S, Ziegler, A, Pao, E, Oyama, N, Brischoux-Boucher, E, Piard, J, Monaghan, K, Sacoto, MG, Dobyns, W, Park, K, Fernández-Mayoralas, D, Fernández-Jaén, A, Jayakar, P, Brusco, A, Antona, V, Giorgio, E, Kvarnung, M, Isidor, B, Conrad, S, Cogné, B, Deb, W, Stuurman, KE, Sterbova, K, Smal, N, Weckhuysen, S, Oegema, R, Innes, M, Latsko, M, Ben-Omran, T, Yeh, R, Kruer, M, Bakhtiari, S, Papavasiliou, A, Moutton, S, Nambot, S, Chanprasert, S, Paolucci, S, Miller, K, Burton, B, Kim, K, O'Heir, E, Bruwer, Z, Donald, K, Kleefstra, T, Goldstein, A, Angle, B, Bontempo, K, Miny, P, Joset, P, Demurger, F, Hobson, E, Pang, L, Carpenter, L, Li, D, Bonneau, D, Sadikovic, B

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Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG von Paketci, C, Edem, P, Hiz, S, Sonmezler, E, Soydemir, D, Sarikaya Uzan, G, Oktay, Y, O'Heir, E, Beltran, S, Laurie, S, Töpf, A, Lochmuller, H, Horvath, R, Yis, U

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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases von Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A, Sonmezler, E, Matalonga, L, Yis, U, Schon, K, Paramonov, I, Kalafatcilar, İP, Gao, F, Rieger, A, Arslan, N, Yilmaz, E, Ekinci, B, Edem, PP, Aslan, M, Özgör, B, Lochmüller, A, Nair, A, O'Heir, E, Lovgren, AK, Broad Center for Mendelian Genomics, Maroofian, R, Houlden, H, Polavarapu, K, Roos, A, Müller, JS, Hathazi, D, Chinnery, PF, Laurie, S, Beltran, S, Lochmüller, H, Horvath, R

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Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG von Paketci, C, Edem, P, Hiz, S, Sonmezler, E, Soydemir, D, Sarikaya Uzan, G, Oktay, Y, O'Heir, E, Beltran, S, Laurie, S, Töpf, A, Lochmuller, H, Horvath, R, Yis, U

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Maternal Thyroid Deficiency During Pregnancy and Subsequent Neuropsychological Development of the Child von Haddow, James E, Palomaki, Glenn E, Allan, Walter C, Williams, Josephine R, Knight, George J, Gagnon, June, O’Heir, Cheryl E, Mitchell, Marvin L, Hermos, Rosalie J, Waisbren, Susan E, Faix, James D, Klein, Robert Z

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RENEWABLE CARPET MAT von ALBERT E. O'HEIR, JOHN T. LOFTUS

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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seqr: A web‐based analysis and collaboration tool for rare disease genomics von Pais, Lynn S., Snow, Hana, Weisburd, Ben, Zhang, Shifa, Baxter, Samantha M., DiTroia, Stephanie, O'Heir, Emily, England, Eleina, Chao, Katherine R., Lemire, Gabrielle, Osei‐Owusu, Ikeoluwa, VanNoy, Grace E., Wilson, Michael, Nguyen, Kevin, Arachchi, Harindra, Phu, William, Solomonson, Matthew, Mano, Stacy, O'Leary, Melanie, Lovgren, Alysia, Babb, Lawrence, Austin‐Tse, Christina A., Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne

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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy von Toepf, Ana, Cox, Dan, Zaharieva, Irina T, Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M, Smolnikov, Andrei, White, Richard J, Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M, Venturini, Cristina, Vroling, Bas, Stenton, Sarah L, Cummings, Beryl B, Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M, Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H, Bodi, Istvan, Bommireddipalli, Shobhana, Boennemann, Carsten G, Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G, Cooper, Sandra T, Davis, Mark R, Donkervoort, Sandra, Erasmus, Corrie E, Fassad, Mahmoud R, Genetti, Casie A, Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xaviere, Loescher, Wolfgang N, Malfatti, Edoardo, Manzur, Adnan, Marti, Pilar, Mongini, Tiziana E, Muelas, Nuria, Nishikawa, Atsuko, O'Donnell-Luria, Anne, Ogonuki, Narumi, O'Grady, Gina L, O'Heir, Emily, Paquay, Stephanie, Phadke, Rahul, Pletcher, Beth A, Romero, Norma B, Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W, Tuite, Allysa, van den Bergh, Peter, Vannoy, Grace, Voermans, Nicol C, Wanschitz, Julia V, Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C, Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J, Macarthur, Daniel G, Sarkozy, Anna, Cordell, Heather J, Udd, Bjarne, Busch-Nentwich, Elisabeth M, Muntoni, Francesco, Straub, Volker

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy von Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

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